Varaico: Literature-Extracted Genetic Variants

Gene:REEP6
Variant:p.W85L

REEP6

74 papers

RefSeq Summary

The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membra...

Pfam Domains

TB2_DP1_HVA22aa 66–143UCSCTB2/DP1, HVA22 family

Gene Aliases

HGNC Name

receptor accessory protein 6

HGNC Previous Symbol

C19orf32

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138393.4
p.W85L
c.254G>T
Surrounding Variants
1 paper
NM_138393.4
p.D82N
c.244G>A
5 papers
NM_138393.4
p.W89*
c.266G>A
5 papers
NM_138393.4
p.W89*
c.267G>A
1 paper
NM_138393.4
p.D81N
c.241G>A
1 paper
NM_138393.4
p.V90M
c.268G>A
5 papers
NM_138393.4
p.V90L
c.268G>C
5 papers
NM_138393.4
p.V90L
c.268G>T
6 papers
NM_138393.4
p.A93_L94delFs
c.279_280delCC
1 paper
NM_138393.4
p.P77_S78delFs
c.230_233del4
4 papers
NM_138393.4
p.L94delFs
c.280_281delCT
1 paper
NM_138393.4
p.L94del1
c.280_281delCTG
1 paper
NM_138393.4
p.L94fs
c.280_281fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."